Mutagenetix > Incidental Mutation

Incidental Mutation 'R7010:Ttc23l'

544979

Institutional Source

Beutler Lab

Gene Symbol

Ttc23l

Ensembl Gene

ENSMUSG00000022249

Gene Name

tetratricopeptide repeat domain 23-like

Synonyms

4930401A09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10500188-10558754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 10515224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 385 (I385L)

Ref Sequence

ENSEMBL: ENSMUSP00000022857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022857] [ENSMUST00000167842] [ENSMUST00000167842]

AlphaFold

A6H6E9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022857
AA Change: I385L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249
AA Change: I385L

Domain	Start	End	E-Value	Type
TPR	159	192	4.21e1	SMART
Blast:TPR	208	239	2e-6	BLAST
TPR	250	283	1.4e1	SMART
low complexity region	292	303	N/A	INTRINSIC
TPR	376	409	9.53e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167842
AA Change: I385L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249
AA Change: I385L

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
Pfam:TPR_1	102	133	3.3e-6	PFAM
low complexity region	148	160	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167842
AA Change: I385L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AL592187.3	A	T	15: 77,486,797 (GRCm39)	Y58F	probably benign	Het
Ano10	T	C	9: 122,082,190 (GRCm39)	T494A	probably damaging	Het
Asah2	A	T	19: 32,031,954 (GRCm39)	F72I	probably benign	Het
Atat1	T	C	17: 36,219,522 (GRCm39)	D114G	probably damaging	Het
Atp6v1e2	C	T	17: 87,251,773 (GRCm39)	M208I	probably benign	Het
Bicd1	A	G	6: 149,396,113 (GRCm39)	Y161C	probably damaging	Het
Camk2g	T	C	14: 20,791,512 (GRCm39)	S410G	probably benign	Het
Car2	C	T	3: 14,965,113 (GRCm39)	P249L	possibly damaging	Het
Cdh23	T	G	10: 60,366,770 (GRCm39)	I237L	probably benign	Het
Dlat	T	A	9: 50,569,274 (GRCm39)	K176N	probably damaging	Het
Dnajc12	T	A	10: 63,233,059 (GRCm39)	C67S	probably benign	Het
Fat1	G	T	8: 45,406,386 (GRCm39)	E1046*	probably null	Het
Gmip	G	A	8: 70,264,050 (GRCm39)	A137T	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grk6	A	G	13: 55,598,113 (GRCm39)	I62V	possibly damaging	Het
Hook1	G	T	4: 95,903,048 (GRCm39)	L512F	probably damaging	Het
Ighe	T	C	12: 113,236,761 (GRCm39)	T36A		Het
Il17rc	A	G	6: 113,456,249 (GRCm39)	N338S	possibly damaging	Het
Itgb6	T	C	2: 60,480,322 (GRCm39)	Y338C	probably damaging	Het
Kcnd2	A	G	6: 21,216,707 (GRCm39)	Y137C	probably damaging	Het
L3mbtl3	T	A	10: 26,158,759 (GRCm39)		probably null	Het
Lcn3	T	C	2: 25,656,068 (GRCm39)	F41S	probably damaging	Het
Map3k8	T	C	18: 4,334,060 (GRCm39)	H344R	probably damaging	Het
Marf1	A	T	16: 13,954,865 (GRCm39)	I884N	probably damaging	Het
Nalcn	G	A	14: 123,530,877 (GRCm39)	T1387I	probably damaging	Het
Nrros	T	C	16: 31,962,398 (GRCm39)	T540A	probably damaging	Het
Or5p63	A	T	7: 107,811,349 (GRCm39)	I129N	probably damaging	Het
Pank2	T	C	2: 131,122,293 (GRCm39)	Y273H	probably benign	Het
Pgrmc2	A	G	3: 41,037,068 (GRCm39)	V121A	probably damaging	Het
Phldb2	C	T	16: 45,571,868 (GRCm39)	V1175M	probably damaging	Het
Prss3b	A	C	6: 41,009,247 (GRCm39)	S196A	probably benign	Het
Ranbp2	A	G	10: 58,290,393 (GRCm39)		probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Syt7	A	G	19: 10,395,354 (GRCm39)	T55A	probably benign	Het
Tfcp2l1	T	C	1: 118,581,457 (GRCm39)	S137P	probably damaging	Het
Tom1	T	A	8: 75,778,603 (GRCm39)	V140D	probably damaging	Het
Vmn1r122	A	G	7: 20,867,896 (GRCm39)	V53A	probably damaging	Het
Vmn2r1	C	T	3: 64,012,146 (GRCm39)	T669I	probably benign	Het
Vmn2r86	A	G	10: 130,291,726 (GRCm39)	L13P	probably benign	Het
Zfp958	T	C	8: 4,678,377 (GRCm39)	I134T	probably benign	Het

Other mutations in Ttc23l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ttc23l	APN	15	10,530,775 (GRCm39)	missense	probably damaging	1.00
IGL01319:Ttc23l	APN	15	10,509,492 (GRCm39)	splice site	probably benign
IGL01562:Ttc23l	APN	15	10,551,476 (GRCm39)	splice site	probably benign
IGL01969:Ttc23l	APN	15	10,551,520 (GRCm39)	nonsense	probably null
IGL03172:Ttc23l	APN	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R0042:Ttc23l	UTSW	15	10,551,627 (GRCm39)	missense	probably damaging	1.00
R0042:Ttc23l	UTSW	15	10,551,627 (GRCm39)	missense	probably damaging	1.00
R0335:Ttc23l	UTSW	15	10,540,049 (GRCm39)	missense	probably benign	0.26
R0554:Ttc23l	UTSW	15	10,530,743 (GRCm39)	missense	probably benign	0.12
R0609:Ttc23l	UTSW	15	10,504,622 (GRCm39)	missense	probably benign
R0631:Ttc23l	UTSW	15	10,540,066 (GRCm39)	missense	probably damaging	1.00
R1703:Ttc23l	UTSW	15	10,523,744 (GRCm39)	missense	probably damaging	1.00
R2106:Ttc23l	UTSW	15	10,547,342 (GRCm39)	missense	probably damaging	1.00
R2220:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2276:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2277:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2278:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2279:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2368:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2368:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2420:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2420:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2421:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2830:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2831:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2831:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2979:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2981:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2981:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2982:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2982:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3176:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3177:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3276:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3277:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3722:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R3722:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3743:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R3743:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3767:Ttc23l	UTSW	15	10,530,781 (GRCm39)	missense	possibly damaging	0.94
R3921:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3921:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R3921:Ttc23l	UTSW	15	10,537,649 (GRCm39)	small insertion	probably benign
R4091:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4091:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4119:Ttc23l	UTSW	15	10,540,006 (GRCm39)	missense	probably damaging	1.00
R4120:Ttc23l	UTSW	15	10,540,006 (GRCm39)	missense	probably damaging	1.00
R4373:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4373:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4375:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4375:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4376:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4376:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R5002:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5106:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5107:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5109:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5156:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5157:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5160:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5161:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5259:Ttc23l	UTSW	15	10,515,236 (GRCm39)	missense	probably damaging	0.99
R5307:Ttc23l	UTSW	15	10,533,745 (GRCm39)	missense	probably damaging	1.00
R5728:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5756:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5772:Ttc23l	UTSW	15	10,551,555 (GRCm39)	missense	probably benign	0.01
R5793:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5794:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5847:Ttc23l	UTSW	15	10,537,682 (GRCm39)	missense	probably benign	0.07
R6976:Ttc23l	UTSW	15	10,537,666 (GRCm39)	nonsense	probably null
R7342:Ttc23l	UTSW	15	10,551,583 (GRCm39)	missense	probably benign	0.01
R7404:Ttc23l	UTSW	15	10,551,663 (GRCm39)	missense	probably damaging	0.98
R7453:Ttc23l	UTSW	15	10,533,853 (GRCm39)	missense	probably damaging	1.00
R7584:Ttc23l	UTSW	15	10,533,794 (GRCm39)	missense	probably damaging	1.00
R7599:Ttc23l	UTSW	15	10,533,766 (GRCm39)	missense	possibly damaging	0.89
R8710:Ttc23l	UTSW	15	10,540,021 (GRCm39)	missense	probably damaging	1.00
R8927:Ttc23l	UTSW	15	10,530,720 (GRCm39)	missense	probably damaging	1.00
R8928:Ttc23l	UTSW	15	10,530,720 (GRCm39)	missense	probably damaging	1.00
R9101:Ttc23l	UTSW	15	10,537,661 (GRCm39)	missense	probably benign	0.16
R9746:Ttc23l	UTSW	15	10,523,729 (GRCm39)	missense	probably benign	0.01
R9782:Ttc23l	UTSW	15	10,530,767 (GRCm39)	missense	probably damaging	1.00
R9792:Ttc23l	UTSW	15	10,537,731 (GRCm39)	missense	probably benign
R9793:Ttc23l	UTSW	15	10,537,731 (GRCm39)	missense	probably benign
R9795:Ttc23l	UTSW	15	10,537,731 (GRCm39)	missense	probably benign
Z1088:Ttc23l	UTSW	15	10,533,753 (GRCm39)	missense	probably damaging	1.00
Z1177:Ttc23l	UTSW	15	10,533,719 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTTTGTTCTGTTGGTATGCTAAC -3'
(R):5'- TTGTGTGGTGAGAGCACAC -3'

Sequencing Primer
(F):5'- ACATACAGCCTTGTGGACTG -3'
(R):5'- TGAGAGCACACTGTCGCACTG -3'

Posted On

2019-05-13